Lochmüller, Hanns Ramirez, Antonio Nino Kakkis, Emil
Published in
Orphanet Journal of Rare Diseases
It has recently been suggested that registries for rare neuromuscular diseases should be formed and governed exclusively by physicians and patients in an effort to limit conflicts of interest. Enacting such an approach would not only be challenging logistically and financially, but it would also exclude the involvement of sponsors, who are an integ...
Burke, Tom Asghar, Sohaib O’Hara, Jamie Sawyer, Eileen K. Li, Nanxin
Published in
Orphanet Journal of Rare Diseases
BackgroundHemophilia B is a rare congenital bleeding disorder that has a significant negative impact on patients’ functionality and health-related quality of life. The standard of care for severe hemophilia B in the United States is prophylactic factor IX replacement therapy, which incurs substantial costs for this lifelong condition. Accurate esti...
Willemse, Brigitte W. M. van der Crabben, Saskia N. Kerstjens-Frederikse, Wilhelmina S. Timens, Wim van Montfrans, Joris M. Lindemans, Caroline A. Boelens, Jaap Jan Hennus, Marije P. van Haaften, Gijs
Published in
Orphanet Journal of Rare Diseases
We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be lim...
Hüffmeier, Ulrike Kraus, Cornelia Reuter, Miriam S. Uebe, Steffen Abbott, Mary-Alice Ahmed, Syed A. Rawson, Kristyn L. Barr, Eileen Li, Hong Bruel, Ange-Line
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Published in
Orphanet Journal of Rare Diseases
BackgroundAn identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and...
Post, Annemarie E. M. Klockgether, Thomas Landwehrmeyer, G. Bernhard Pandolfo, Massimo Arnesen, Astri Reinhard, Carola Graessner, Holm
Published in
Orphanet Journal of Rare Diseases
BackgroundPatient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a survey on research priorities to ERN-RND members, both patient representatives and healthcare professionals, asking them to priorit...
Shen, Lisha Xu, Whenshuai Gao, Jinsong Wang, Jun Huang, Jiannan Wang, Yani He, Yudi Yang, Yanli Tian, Xinlun Xu, Kai-Feng
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Published in
Orphanet Journal of Rare Diseases
BackgroundLymphangioleiomyomatosis (LAM) is a rare disease that almost exclusively affects women of reproductive age. Patients are warned of the increased risks if they become pregnant. However, information on pregnancy in patients after the diagnosis of LAM is limited.MethodsPatients were collected from the LAM registry study at Peking Union Medic...
Hou, Cheng-cheng Ye, Jing-fen Ma, Hai-fen Guan, Jian-long
Published in
Orphanet Journal of Rare Diseases
BackgroundIntestinal Behçet’s syndrome (BS) has high morbidity and mortality rates with serious complications. The purpose of this study was to investigate the clinical characteristics and laboratory parameters of intestinal and mucocutaneous BS patients and analyze the risk factors of intestinal involvement in BS patients.MethodsA retrospective an...
Yin, Shilu Xu, Lu Wang, Shengfeng Feng, Jingnan Liu, Lili Liu, Guozhen Wang, Jinxi Zhan, Siyan Zhao, Zhenmin Gao, Pei
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Published in
Orphanet Journal of Rare Diseases
BackgroundExtramammary Paget’s disease (EMPD) is an intraepithelial adenocarcinoma. The chronic relapsing clinical course and unbearable clinical symptoms of extramammary Paget’s disease usually result in a markedly diminished quality of life. No national data are available on descriptive epidemiology of EMPD in China, the most populous country ove...
Georgiou, Michalis Ali, Naser Yang, Elizabeth Grewal, Parampal S. Rotsos, Tryfon Pontikos, Nikolas Robson, Anthony G. Michaelides, Michel
Published in
Orphanet Journal of Rare Diseases
PurposeTo present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rarely (n = 3) previously associated with the disease.MethodsRetrospective case series of LCA/EOSRD from four pedigrees. Chart review of c...
Bonneau, Valérie Nizon, Mathilde Latypova, Xenia Gaultier, Aurélie Hoarau, Eugénie Bézieau, Stéphane Minguet, Guy Turrini, Mauro Jourdain, Maud Isidor, Bertrand
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Published in
Orphanet Journal of Rare Diseases
BackgroundUntil very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general population a risk for a couple to have a child affected by a rare, recessive or X-linked, genetic disease, carrier screening is propo...
